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Darier disease
ATP2A2 (slow-twitched sarco(endo)plasmic reticulum Ca(2+)-ATPase - SERCA2b)
Darier Disease (DD) is an autosomal dominant skin disorder estimated to affect about 1 in 55,000 individuals. Peak age of onset is between 11 and 20 years. The disorder manifests with discrete, hard, hyperkeratotic papules on chest, forehead and extremities, which may progressively develop into thickened, macerated or crusted, malodorous plaques. Other common features are secondary skin infections, nail abnormalities and involvement of mucous membranes. Rarely, individuals with DD may also have a neuropsychiatric disorder, such as major affective disorder, schizophrenia or epilepsy. DD is caused by mutations in the ATP2A2 gene, which markedly reduce the expression and/or lower the calcium channel activity of SERCA2b, an intracellular calcium pump of the sarcoplasmic/endoplasmic reticulum (haploinsufficiency). Current mutation detection strategies identify disease-causing mutations in about two-thirds of individuals with DD. The majority are missense mutations; the remainder small deletions/ insertions, nonsense and splice site mutations, scattered throughout the gene.
GeneDx offers direct bi-directional sequence analysis of the entire coding sequence (21 exons) and adjacent splice sites of the ATP2A2 gene using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA). Identification of at-risk family members and prenatal diagnosis in at-risk pregnancies is available once the disease-causing mutation in a family has been identified.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Keratosis follicularis, Darier-White disease, Acrokeratosis verruciformis, Acral hemorrhagic Darier disease, papules, skin infection, nail abnormality, neuropsychiatric disorder, affective disorder, schizophrenia, epilepsy, haploinsufficiency, calcium pump, calcium ATPase, SERCA, ATP2A2
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